A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593932



Internal ID6981254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:198821538..198831424hg38UCSC Ensembl
Innerchr2:198821595..198831367hg38UCSC Ensembl
Outerchr2:198821481..198831481hg38UCSC Ensembl
chr2:199686262..199696148hg19UCSC Ensembl
Innerchr2:199686319..199696091hg19UCSC Ensembl
Outerchr2:199686205..199696205hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg389887
hg199887
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10817768, essv10817767
SamplesHG00560, NA18984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593932
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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